David Emmert
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View article: Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction
Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction Open
View article: Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants
Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants Open
View article: Systematic mediation and interaction analyses of kidney function genetic loci in a general population study
Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Open
Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify molecular targets for treatment and pr…
View article: Cohort Profile: the Cooperative Health Research in South Tyrol study
Cohort Profile: the Cooperative Health Research in South Tyrol study Open
Key Features
View article: Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles
Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles Open
Genetic studies have identified numerous regions associated with plasma fibrinogen levels in Europeans, yet missing heritability and limited inclusion of non-Europeans necessitates further studies with improved power and sensitivity. Compa…
View article: Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction
Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction Open
IMPORTANCE Olfactory dysfunction is among the earliest signs of many age-related neurodegenerative diseases and has been associated with increased mortality in older adults; however, its genetic basis remains largely unknown. OBJECTIVE To …
View article: Factors influencing olfactory function in an adult general population sample: the CHRIS study
Factors influencing olfactory function in an adult general population sample: the CHRIS study Open
The sense of smell allows for the assessment of the chemical composition of volatiles in our environment. Different factors are associated with reduced olfactory function, including age, sex, as well as health and lifestyle conditions. How…
View article: Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles
Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles Open
Genetic studies have identified numerous regions associated with plasma fibrinogen levels in Europeans, yet missing heritability and limited inclusion of non-Europeans necessitates further studies with improved power and sensitivity. Compa…
View article: Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels
Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels Open
Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studi…
View article: Systematic mediation and interaction analyses of kidney function genetic loci in a general population study
Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Open
Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between-and within-continent variability reflecting major environmental effects. To identify molecular targets for treatment, genome-wide…
View article: Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels
Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels Open
Objective Antithrombin, protein C (PC) and protein S (PS) are circulating natural-anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studies …
View article: Abstracts from the 54th European Society of Human Genetics (ESHG) Conference
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference Open
View article: Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study Open
Atrial fibrillation (AF) is a supraventricular arrhythmia deriving from uncoordinated electrical activation with considerable associated morbidity and mortality. To expand the limited understanding of AF biological mechanisms, we performed…
View article: Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort Open
Mutations in the Parkin ( PRKN ) gene are the most frequent cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous PRKN mutation carriers might also be at increased risk for developing clinical symptoms of PD. Give…
View article: RNAcentral: a hub of information for non-coding RNA sequences
RNAcentral: a hub of information for non-coding RNA sequences Open
RNAcentral is a comprehensive database of non-coding RNA (ncRNA) sequences, collating information on ncRNA sequences of all types from a broad range of organisms. We have recently added a new genome mapping pipeline that identifies genomic…
View article: FlyBase 2.0: the next generation
FlyBase 2.0: the next generation Open
FlyBase (flybase.org) is a knowledge base that supports the community of researchers that use the fruit fly, Drosophila melanogaster, as a model organism. The FlyBase team curates and organizes a diverse array of genetic, molecular, genomi…
View article: Gene2Function: An integrated online resource for gene function discovery
Gene2Function: An integrated online resource for gene function discovery Open
One of the most powerful ways to develop hypotheses regarding biological functions of conserved genes in a given species, such as in humans, is to first look at what is known about function in another species. Model organism databases (MOD…
View article: Building a comprehensive catalog of Drosophila datasets at FlyBase
Building a comprehensive catalog of Drosophila datasets at FlyBase Open
View article: FlyBase at 25: looking to the future
FlyBase at 25: looking to the future Open
Since 1992, FlyBase (flybase.org) has been an essential online resource for the Drosophila research community. Concentrating on the most extensively studied species, Drosophila melanogaster, FlyBase includes information on genes (molecular…
View article: Gene Model Annotations for<i>Drosophila melanogaster</i>: The Rule-Benders
Gene Model Annotations for<i>Drosophila melanogaster</i>: The Rule-Benders Open
In the context of the FlyBase annotated gene models in Drosophila melanogaster, we describe the many exceptional cases we have curated from the literature or identified in the course of FlyBase analysis. These range from atypical but commo…
View article: Gene Model Annotations for <i>Drosophila melanogaster</i>: Impact of High-Throughput Data
Gene Model Annotations for <i>Drosophila melanogaster</i>: Impact of High-Throughput Data Open
We report the current status of the FlyBase annotated gene set for Drosophila melanogaster and highlight improvements based on high-throughput data. The FlyBase annotated gene set consists entirely of manually annotated gene models, with t…